Screening of pathogenic genes in a Chinese familial dilated cardiomyopathy pedigree from Inner Mongolia
10.3760/cma.j.issn.0253-3758.2019.03.004
- VernacularTitle: 内蒙古自治区一家族性扩张型心肌病家系致病基因筛查
- Author:
Xiaoping LIU
1
;
Yubao FENG
1
;
Yong ZENG
2
,
3
;
Qian FAN
2
,
3
;
Rui GAO
2
,
3
;
Haijun WANG
1
;
Jinliang GAO
1
;
Yongling LI
1
;
Ping SU
1
;
Ruixia HE
1
Author Information
1. Department of Cardiology, Ordos Clinical College of Inner Mongolia Medical University, Ordos Central Hospital, Ordos 017000, China
2. Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
3. Shenzhen Huada Gene Technology Co., Ltd, Shenzhen 518000, China
- Publication Type:Journal Article
- Keywords:
Cardiomyopathy, dilated;
Genetic variation;
Genetic testing
- From:
Chinese Journal of Cardiology
2019;47(3):197-203
- CountryChina
- Language:Chinese
-
Abstract:
Objective:Screen the pathogenic genes of a pedigree with clinical manifestation of familial dilated cardiomyopathy in Inner Mongolia.
Methods:A total of 3 patients with dilated cardiomyopathy and 20 family members from the same family were examined in Ordos Central Hospital in Inner Mongolia from October, 2003 to August, 2017. Data on medical history, physical examinations, electrocardiograms, and echocardiography were obtained. 5 ml peripheral blood was sampled for per person. Chip Capture Sequencing technology was used to capture all the exons and splice sites of the genes that associated with hereditary cardiomyopathy and hereditary arrhythmia. The mutations in these genes were detected by high-throughput sequencing. All suspected pathogenic loci identified by high-throughput sequencing were verified by Sanger sequencing used for mutation detection. One hundred and fifty gender, age and race matched healthy people were included as the control group.
Results:Pathogenic gene variations were detected in 3 symptomatic family members and 1 carrier from the pedigree. Five pathogenic gene variations were identified in the proband (Ⅱ1), a pSer236Gly and a pArg215Cys variation in the MYBPC3 gene, a pGln90Arg variation in the DSP gene, and pAsn2912Asp and pGlu2910Val variation in the DMD gene. One pathogenic variation was detected in Ⅲ3, which was a pArg215Cys variation in the MYBPC3 gene. Two pathogenic variations were detected in Ⅲ7, a pSer236Gly variation in the MYBPC3 gene and a pGln90Arg variation in the DSP gene. Two pathogenic variations were detected in the Ⅳ7, a pSer236Gly variation in the MYBPC3 gene and a pGln90Arg variation in the DSP gene. No gene variation loci were detected in the other family members and the control group.
Conclusion:MYBPC3 gene, DSP gene and DMD gene variations are present in the familial dilated cardiomyopathy pedigree from Inner Mongolia, and these variations may be related with familial dilated cardiomyopathy.
